Disease: Atypical Hemolytic Uremic Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs782488785
rs782488785
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		0.010 GeneticVariation BEFREE DNA sequencing of six candidate genes, identified a C3 p.I1157T missense mutation in all eight patients in six families examined and this mutation was causative for aHUS. 25135378 2014
dbSNP: rs904056711
rs904056711
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		0.010 GeneticVariation BEFREE Four missense mutations, CFH p.V837I, p.Y1058H, p.V1060L and THBD p.R403K may predispose to aHUS manifestation; the remaining seven missense mutations were likely neutral. 25135378 2014